Canonical Allele Identifier: CA902014390

Gene: SI

Linked Data

• dbSNP Id: rs1284929769
• gnomAD v4: 3-165046830-AACTGTC-A
• MyVariant Identifiers: chr3:g.164764619_164764624del (hg19) ; chr3:g.165046831_165046836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165046831_165046836del , CM000665.2:g.165046831_165046836del	GRCh38
NC_000003.11:g.164764619_164764624del , CM000665.1:g.164764619_164764624del	GRCh37
NC_000003.10:g.166247313_166247318del	NCBI36
NG_017043.1:g.36660_36665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.1887+5_1887+10del MANE Select	ENSP00000264382.3:n.1887+5_1887+10del
ENST00000264382.7:c.1887+5_1887+10del	ENSP00000264382.3:n.1887+5_1887+10del
NM_001041.3:c.1887+5_1887+10del	NP_001032.2:n.1887+5_1887+10del
XM_011513078.1:c.1788+5_1788+10del	XP_011511380.1:n.1788+5_1788+10del
XM_011513078.2:c.1788+5_1788+10del	XP_011511380.1:n.1788+5_1788+10del
NM_001041.4:c.1887+5_1887+10del MANE Select	NP_001032.2:n.1887+5_1887+10del